TABLE 3.
ID | Sex | Gene | Nucleotide change | Amino acid change | Type of mutation | Origin | Clinical diagnosis |
---|---|---|---|---|---|---|---|
ASD0046 | female | ASH1L | c.8595delT | p.Gln2866fs | Frameshift | de novo | Intellectual developmental disorder, autosomal dominant 52 |
ASD0061 | male | EP300 | c.4242T>G | p.Tyr1414* | Non-sense | de novo | Menke-Hennekam syndrome 2 |
ASD0063 | female | SCN2A | c.4550_4551del | p.Ala1517fs | Frameshift | de novo | Developmental and epileptic encephalopathy 11 |
ASD0134 | male | ADNP | c.2156_2157insA | p.Tyr719* | Non-sense | de novo | Helsmoortel-van der Aa syndrome |
ASD0148 | female | SHANK3 | c.4728_4740del | p.Leu1577fs | Frameshift | de novo | Phelan-McDermid syndrome |
ASD0162 | male | NF1 | c.7395-2A>T | - | Splicing | de novo | Neurofibromatosis, type 1 |
ASD0219 | female | PRKD1 | c.41_71del | p.Leu14fs | Frameshift | de novo | Congenital heart defects and ectodermal dysplasia |
ASD0221 | male | SCN2A | c.605 + 1G>A | - | Splicing | de novo | Episodic ataxia type 9 |
ASD0294 | male | PTEN | c.546dupA | p.Leu182fs | Frameshift | de novo | Macrocephaly/autism syndrome |
ASD0326 | male | SCN2A | c.1570C>T | p.Arg524* | Non-sense | de novo | Episodic ataxia type 9 |